Simultaneous detection of Hb constant spring (α142, TAA>CAA, α2) and the α2 IVS-I donor site (-TGAGG) deletion by a simple polymerase chain reaction-based method in Iran.

Autor: Akhavan-Niaki H; Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Islamic Republic of Iran. halehakhavan@yahoo.com, Banihashemi A, Mostafazadeh A, Kholghi Oskooei V, Azizi M, Youssefi Kamangar R, Elmi MM
Jazyk: angličtina
Zdroj: Hemoglobin [Hemoglobin] 2012; Vol. 36 (2), pp. 124-30. Date of Electronic Publication: 2012 Feb 22.
DOI: 10.3109/03630269.2012.657728
Abstrakt: Hb Constant Spring (Hb CS, codon 142, TAA>CAA, α2) (HBA2:c.427T>C) and α2 IVS-I donor site (GAGGTGAGG>GAGG - - - - -) (HBA2:c.95+2_95+6delTGAGG) are nondeletional α-thalassemia (α-thal) mutations found all over the world. Identification of α-thal genotypes in at-risk couples for severe anemia or in highly heterogeneous populations requires rapid, accurate and cost-effective genotyping methods. In this study, a pair of primers were used to specifically amplify an 883 bp fragment from the α2-globin gene in order to simultaneously identify these two mutations by a PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method. We determined the genotypic frequencies of Hb CS and the α2 IVS-I donor site mutations after amplification and enzymatic digestion with Tru9I in 238 northern Iranian samples referred for α-thal testing. Hb CS and the α2 IVS-I donor site mutations accounted for 21 (8.8%) and 29 (12.2%) of the nondeletional cases. This genotyping assay has proven to be a rapid, reliable and useful diagnostic tool for simultaneous detection of these two anomalies for genetic counseling or further prenatal diagnosis.
Databáze: MEDLINE
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